CAJ | 학술논문

目的探讨伴t(11;12)(p15;q13)急性髓系白血病(AML)的临床和实验室特征.方法结合文献分析采用细胞形态学方法诊断为AML-M3而染色体核型为t(11;12)(p15;q13)的2例患者资料.结果患者均为男性,细胞形态学、组织细胞化学染色、电镜检查等支持AML-M3诊断,但染色体核型为t(11;12)(p15;q13),不具有典型的t(15;17)(q22;q12)和PML-RARα融合基因,给予维甲酸和亚砷酸治疗无效.结论 AML具有高度异质性,应重视细胞、分子遗传学特征在诊断、预后分层和治疗选择中的作用.伴t(11;12)(p15;q13)的AML因临床和分子特征异质性难以归类为“伴重现性细胞遗传学异常的AML”,发病机制尚不明确.
목적 탐토반t(11;12)(p15;q13)급성수계백혈병(AML)적림상화실험실특정.방법 결합문헌분석채용세포형태학방법진단위AML-M3이염색체핵형위t(11;12)(p15;q13)적2례환자자료.결과 환자균위남성,세포형태학、조직세포화학염색、전경검사등지지AML-M3진단,단염색체핵형위t(11;12)(p15;q13),불구유전형적t(15;17)(q22;q12)화PML-RARα융합기인,급여유갑산화아신산치료무효.결론 AML구유고도이질성,응중시세포、분자유전학특정재진단、예후분층화치료선택중적작용.반t(11;12)(p15;q13)적AML인림상화분자특정이질성난이귀류위“반중현성세포유전학이상적AML”,발병궤제상불명학.
Objective To investigate the clinical and laboratory features of acute myeloid leukemia (AML) with t(11;12) (p15;q13) translocation.Methods Two cases of AML with t(11;12)(p15;q13) translocation were reported and the related literatures were reviewed.Results The diagnosis of AML-M3 was supported by morphological,cytochemical staining and electron microscope tests.A rare t (11;12) (p15;q13) translocation,but not classical t (15;17) (q22;q12) translocation and PML-RARα fusion gene,was detected in both cases.Both of the patients were refractory to differentiation induction therapy such as retinoic acid and arsenic trioxide.Conclusions AML is a group of heterogeneous disease derived from hematopoietic stem cell.Cytogenetic characteristic is important for diagnosis,prognosis stratification and therapy selection.Because of the heterogeneity of clinical and molecular features,it is unsuitable to classify AML with t (11; 12) (p 15;q 13) as AML with recurrent cytogenetic aberration.This group of disease may benefit from allogeneic hematopoietic stem cell transplantation.